Vimla S. Aggarwal - Vagelos College of Physicians and Surgeons, Columbia University

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论文共 132 篇作者统计合作学者相似作者

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P008: ClinGen Glucose-6-phosphate Dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the Need for Genetic Variant Classification in G6PD Deficiency*

Shruthi Mohan,Renee Geck,Shawn Fayer, Roseann Donnelly,Mary Relling,Tom Vulliamy,Kelly Caudle,Amber Waddell, Essence Kendall,Gonzalo Domingo,Angelo Minucci,Benedikt Ley,Cindy Chu,Cyrine Haidar,Howard McLeod,Josef Prchal,Mahmoud Sirdah,Vimla Aggarwal,Weiying Jiang,Emily Kyle

Genetics in Medicine Open (2024): 100885

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ClinGen Variant Curation Expert Panel Recommendations for Classification of Variants in GAMT, GATM and SLC6A8 for Cerebral Creatine Deficiency Syndromes

Jennifer Goldstein,Amanda Thomas-Wilson,Emily Groopman,Vimla Aggarwal,Simona Bianconi,Raquel Fernandez,Kim Hart,Nicola Longo, Nicole Liang,Daniel Reich,Heidi Wallis,Meredith Weaver,Sarah Young,Saadet Mercimek-Andrews

MOLECULAR GENETICS AND METABOLISMno. 1 (2024)

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P702: Mosaic Monosomy/partial Trisomy 13 Resulting from an Unstable Ring Chromosome in a Child with Multiple Congenital Anomalies and Developmental Delay

Xin Bi,Alejandro Iglesias,Brynn Levy,Vimla Aggarwal

Genetics in Medicine Open (2024): 101606

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P002: Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes*

Emily Groopman,Jenny Goldstein,Amanda Thomas-Wilson,Daniel Reich,Emily Kyle,Vimla Aggarwal, Christine Preston,Kim Hart, Nicole Si Yan Liang,Sarah Young,Simona Bianconi,Nicola Longo,Heidi Wallis,Saadet Mercimek-Andrews

Genetics in Medicine Open (2024): 100879

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P641: Application of AlphaMissense Prediction to Pathogenicity Classification of Missense Variants from Clinical Exome Sequencing

Xinming Zhuo,Vimla Aggarwal,Jun Liao

Genetics in Medicine Open (2024): 101547

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RNA Methyltransferase SPOUT1/CENP-32 Links Mitotic Spindle Organization with the Neurodevelopmental Disorder SpADMiSS

Avinash V Dharmadhikari,Maria Alba Abad,Sheraz Khan,Reza Maroofian,Tristan T Sands,Farid Ullah,Itaru Samejima,Martin A Wear, Kiara E Moore,Elena Kondakova, Natalia Mitina,Theres Schaub, Grace K Lee, Christine H Umandap,Sara M Berger,Alejandro D Iglesias,Bernt Popp,Rami Abou Jamra,Heinz Gabriel,Stefan Rentas,Alyssa L Rippert,Kosuke Izumi,Laura K Conlin,Daniel C Koboldt,Theresa Mihalic Mosher,Scott E Hickey,Dara V F Albert, Haley Norwood, Amy Feldman Lewanda,Hongzheng Dai,Pengfei Liu,Tadahiro Mitani,Dana Marafi,Davut Pehlivan,Jennifer E Posey,Natalie Lippa,Natalie Vena,Erin L Heinzen,David B Goldstein,Cyril Mignot,Jean-Madeleine de Sainte Agathe,Nouriya Abbas Al-Sannaa,Mina Zamani,Saeid Sadeghian,Reza Azizimalamiri, Tahere Seifia,Maha S Zaki,Ghada M H Abdel-Salam,Mohamed Abdel-Hamid,Lama Alabdi,Fowzan Sami Alkuraya,Heba Dawoud, Aya Lofty,Peter Bauer,Giovanni Zifarelli,Erum Afzal,Faisal Zafar,Stephanie Efthymiou, Daniel Gossett,Meghan C Towne, Raey Yeneabat, Sandeep N Wontakal,Vimla S Aggarwal,Jill A Rosenfeld,Victor Tarabykin,Shinya Ohta,James R Lupski,Henry Houlden,William C Earnshaw,Erica E Davis,A Arockia Jeyaprakash,Jun Liao

medRxiv the preprint server for health sciences（2024）

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Copy Number Analysis of Whole Exome Sequencing Data

Chinwe Madubata, Xin Bi,Jiuhong Pang, Yue Gu, Lahari Koganti,Jun Liao,Susan Hsiao,Vimla Aggarwal,Mahesh Mansukhani,Vaidehi Jobanputra

AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2024): S158-S159

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Chromosomal Microarrays and Next-Generation Sequencing for Diagnosis of Fetal Abnormalities

Brynn Levy,Melissa Stosic,Jessica Giordano,Ronald Wapner,Vimla Aggarwal

Human Reproductive and Prenatal Geneticspp.767-787, (2023)

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Neurodevelopmental and Epilepsy Phenotypes in Individuals with Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Hannah C. Happ,Lynette G. Sadleir,Matthew Zemel,Guillem de Valles-Ibanez,Michael S. Hildebrand,Allyn McConkie-Rosell,Marie McDonald,Halie May,Tristan Sands,Vimla Aggarwal,Christopher Elder,Timothy Feyma,Allan Bayat,Rikke S. Moller,Christina D. Fenger,Jens Erik Klint Nielsen,Anita N. Datta,Kathleen M. Gorman,Mary D. King,Natalia D. Linhares,Barbara K. Burton,Andrea Paras,Sian Ellard,Julia Rankin,Anju Shukla,Purvi Majethia,Rory J. Olson,Karthik Muthusamy,Lisa A. Schimmenti,Keith Starnes,Lucie Sedlackova,Katalin Sterbova,Marketa Vlckova,Petra Lassuthova,Alena Jahodova,Brenda E. Porter,Nathalie Couque,Estelle Colin,Clement Prouteau,Corinne Collet,Thomas Smol,Roseline Caumes,Fleur Vansenne,Francesca Bisulli,Laura Licchetta,Richard Person,Erin Torti,Kirsty McWalter, Richard Webster,Elizabeth E. Gerard,Gaetan Lesca,Pierre Szepetowski,Ingrid E. Scheffer,Heather C. Mefford,Gemma L. Carvill

NEUROLOGY（2023）

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